CPT® Code 88130

1. Indications

The procedure coded under CPT® 88130 is indicated for the following conditions:

• Sex Chromosome Abnormalities This procedure is performed to assess individuals suspected of having sex chromosome abnormalities, which may include conditions such as Turner syndrome or Klinefelter syndrome.
• Gender Determination It is utilized in cases where there is a need to confirm the genetic sex of an individual, particularly in ambiguous cases or intersex conditions.
• Genetic Counseling The test may be indicated for individuals undergoing genetic counseling to understand their chromosomal makeup and its implications for health and reproduction.

2. Procedure

The procedure for sex chromatin identification using CPT® 88130 involves several key steps:

• Sample Collection A buccal smear is obtained from the patient. This is done by gently scraping the inside of the cheek to collect epithelial cells, which are then transferred onto a microscope slide for analysis.
• Staining The collected cells are stained using orcein, a dye that specifically highlights the X-chromatin within the interphase cells. This staining process is crucial for visualizing the chromatin structures under a microscope.
• Identification of Barr Bodies After staining, the slide is examined microscopically to identify the presence of Barr bodies. These dark-staining structures indicate the presence of inactivated X-chromosomes. The number of Barr bodies observed is directly related to the number of X-chromosomes in the cells.
• Analysis and Interpretation The results are analyzed to determine the chromosomal composition of the individual. For example, the presence of one Barr body typically indicates a normal XX female, while the absence of Barr bodies suggests an XY male. Additional interpretations may be made based on the number of Barr bodies present.

3. Post-Procedure

Post-procedure care for the patient is generally minimal, as the buccal smear collection is a non-invasive procedure. Patients may resume normal activities immediately following the test. However, it is important for healthcare providers to discuss the results with the patient once they are available, as this will provide critical information regarding the individual's chromosomal status. Any further genetic counseling or follow-up testing may be recommended based on the findings of the Barr body analysis.